Dr C P Ravikumar

Autism? Cerebral Palsy? No, It’s Rett Syndrome: A Guide for Parents and Caregivers

Rett-Disease
Dr. Ravi Kumar C P, Consultant – Paediatric Neurology, Aster Women and Children Hospital, Whitefield, Bengaluru

People sometimes easily mistake Rett syndrome for autism or cerebral palsy because the symptoms can look similar. Children with Rett syndrome may lose skills such as speech, walking, or hand use, much like children with those other conditions. However, despite these overlaps, Rett syndrome is a separate disorder with its own distinct characteristics. Early diagnosis and treatment can help manage symptoms, making it crucial for parents to recognize the difference.

October is Rett Syndrome Awareness Month, a time to learn how parents can identify the signs and get the right help in time. Let’s dive deeper into Rett syndrome and explore what parents need to know.

What Exactly is Rett Syndrome?

To put it simply: Rett syndrome makes it hard for the brain to send the right messages to the body. This is why children with this condition have difficulty controlling their movements, talking, or doing everyday tasks.

What Are Some Symptoms to Look Out For?

Parents might notice a few early signs, and it’s important to keep an eye on these:

  • Loss of purposeful hand movements: Instead of being able to grasp toys or feed themselves, children may start doing repetitive hand movements like wringing, clapping, or tapping.
  • Loss of speech: A child who would attempt to talk and trying to learn new words will stop and become withdrawn.
  • Motor problems: Difficulty with walking, standing, or even sitting up can develop. A child who was starting to walk might stop, or their movement may become stiff and uncoordinated.
  • Breathing issues: Some children develop strange breathing patterns, like holding their breath or hyperventilating.
  • Seizures: Children with Rett syndrome are more likely to have seizures, which can vary from mild to severe.
  • Social withdrawal: At first, some children with Rett syndrome may show less interest in social interaction, making it easy to confuse the disorder with autism.

Are There Any Tests Parents Can Do? How Early Do They Need to Do Them?

Yes, there are tests! If you notice any of the above symptoms, especially between 6 months and 2 years of age, it’s important to consult a doctor, specifically a pediatric neurologist or geneticist. They will most likely recommend a genetic test to check for the MECP2 gene mutation. Diagnosing Rett syndrome early can help with planning the right care and support for your child.

At What Age Does Rett Syndrome Manifest?

Rett syndrome usually becomes noticeable between 6 months and 18 months of age, after a period of apparently normal development. Some early signs, like losing interest in play or slowing head growth, can be easy to miss. However, by the age of 1 to 4 years, more obvious signs like loss of hand skills, speech, and motor function tend to show up.

What Necessary Things Can Parents Do?

Parents can help by seeking early intervention through therapy, working with specialists, using communication aids like picture boards, and joining support groups for emotional support.

Is It Painful? What Does a Child with Rett Syndrome Undergo?

Rett syndrome itself doesn’t typically cause pain. However, the physical challenges that come with it, like muscle stiffness or scoliosis, may lead to discomfort if not treated. Children might also experience frustration because they cannot communicate or move like other kids their age. Regular therapy and care from specialists can help manage any discomfort and improve mobility.

Is It True Only Girls Have Rett Syndrome? Can Boys Have It Too?

Yes, Rett syndrome primarily affects girls, but it can also affect boys, although this is very rare. The reason girls are more commonly affected is because they have two X chromosomes, one of which can sometimes compensate for the mutation in the MECP2 gene. Boys, who have only one X chromosome, usually have a much more severe form of the disorder. Most male fetuses die in the uterus, if they are born, most boys with the mutation do not survive past infancy, but in rare cases, boys with milder forms of Rett syndrome can live, although they usually have more severe symptoms than girls.

How to care Rett Syndrome Affected Adults?

Yes, with proper care, individuals with Rett syndrome can survive beyond childhood. Nevertheless, they might still have some problems with movement, speech, and seizure control. In general, older women with Rett syndrome still need a large amount of follow-up medical care and therapy for them to maintain a good standard and quality of life. Family members should also consider the long-term care of the child before they becomes older.

Until now, there was no effective treatment for Rett Syndrome, and it was about supportive care, however now there is hope with the introduction of Trofinetide. This investigational drug has shown promising results in reducing symptoms like social behavior abnormalities and motor deficits. It works by improving neuronal signaling and reducing neuroinflammation. With a new treatment option available for the management of Rett syndrome, families suffering from this disorder can now hope for possible positive changes in their lives.

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